MCID: OST001
MIFTS: 70

Osteopetrosis

Categories: Blood diseases, Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Immune diseases, Liver diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Osteopetrosis

MalaCards integrated aliases for Osteopetrosis:

Name: Osteopetrosis 12 52 25 36 29 54 6 15 37 71 32
Albers-Schonberg Disease 12 74 52
Osteopetrosis and Related Disorders 52 58
Congenital Osteopetrosis 25 71
Marble Bone Disease 52 25
Osteopetroses 52 25
Albers-Schonberg Osteopetrosis 52
Albers-Schoenberg Disease 52
Osteosclerosis Fragilis 52
Osteopetrosis, 74
Marble Bones 52
Marble Bone 12

Characteristics:

Orphanet epidemiological data:

58
osteopetrosis and related disorders
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: All ages;

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Osteopetrosis

Genetics Home Reference : 25 Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Autosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In these people, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. In affected individuals who develop signs and symptoms, the major features of the condition include multiple bone fractures, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence. Autosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood. Other features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy). A few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis. Rarely, osteopetrosis can have an X-linked pattern of inheritance. In addition to abnormally dense bones, the X-linked form of the disorder is characterized by abnormal swelling caused by a buildup of fluid (lymphedema) and a condition called anhydrotic ectodermal dysplasia that affects the skin, hair, teeth, and sweat glands. Affected individuals also have a malfunctioning immune system (immunodeficiency), which allows severe, recurrent infections to develop. Researchers often refer to this condition as OL-EDA-ID, an acronym derived from each of the major features of the disorder.

MalaCards based summary : Osteopetrosis, also known as albers-schonberg disease, is related to osteopetrosis, autosomal recessive 5 and osteopetrosis, autosomal dominant 1. An important gene associated with Osteopetrosis is OSTM1 (Osteoclastogenesis Associated Transmembrane Protein 1), and among its related pathways/superpathways are Osteoclast differentiation and Rheumatoid arthritis. The drugs leucovorin and Methotrexate have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and brain, and related phenotypes are hearing impairment and macrocephaly

Disease Ontology : 12 An osteosclerosis that has material basis in lack of bone resorption which results in abnormally hard and brittle bones.

NIH Rare Diseases : 52 Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly, ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray . Depending on severity and age of onset, features may include fractures, short stature , compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures , and life-threatening pancytopenia . In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by mutations in at least 10 genes . Inheritance can be autosomal recessive , autosomal dominant , or X-linked recessive with the most severe forms being autosomal recessive. Management depends on the specific symptoms and severity and may include vitamin D supplements, various medications, and/or surgery. Adult osteopetrosis requires no treatment by itself, but complications may require intervention.

KEGG : 36 The osteopetroses are a heterogeneous group of disorders characterized by increased bone density and the replacement of trabecular bone with compact bone due to reduced osteoclastic bone resorption. Some osteopetrotic conditions exhibit additional clinical features including renal tubular acidosis and secondary neurological impairment. In forms of osteopetrosis with normal osteoclast counts, most of the mutated genes encode proteins that regulate the intra- and extracellular pH of osteoclasts, such as TCIRG1 gene encoding for the a3 subunit of the V-ATPase and CLCN7 gene. In cases with decreased osteoclast counts, osteoclast differentiation is impaired by mutations in RANKL or RANK. These RANK-deficient patients could be rescued by hematopoietic stem cell transplantation.

Wikipedia : 74 Osteopetrosis, literally "stone bone", also known as marble bone disease or Albers-Schönberg disease, is... more...

Related Diseases for Osteopetrosis

Diseases in the Osteopetrosis family:

Osteopetrosis, Autosomal Dominant 2 Osteopetrosis, Autosomal Recessive 1
Osteopetrosis, Autosomal Recessive 2 Osteopetrosis, Autosomal Recessive 5
Osteopetrosis, Autosomal Recessive 3 Osteopetrosis, Autosomal Dominant 1
Osteopetrosis, Autosomal Recessive 4 Osteopetrosis, Autosomal Recessive 6
Osteopetrosis, Autosomal Recessive 7 Osteopetrosis, Autosomal Recessive 8
Osteopetrosis, Autosomal Dominant 3 Clcn7-Related Osteopetrosis
Autosomal Recessive Malignant Osteopetrosis

Diseases related to Osteopetrosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 393)
# Related Disease Score Top Affiliating Genes
1 osteopetrosis, autosomal recessive 5 35.0 TCIRG1 OSTM1 CLCN7
2 osteopetrosis, autosomal dominant 1 35.0 LRP5 CLCN7
3 osteopetrosis, autosomal recessive 1 34.9 TCIRG1 CLCN7 ATP6V0A2
4 osteopetrosis, autosomal recessive 7 34.9 TNFSF11 TNFRSF11A TCIRG1 CLCN7 ATP6V0A2
5 osteopetrosis, autosomal dominant 2 34.9 TNFSF11 TCIRG1 LRP5 CLCN7 ACP5
6 osteopetrosis, autosomal recessive 6 34.8 TNFSF11 TCIRG1 PLEKHM1 CLCN7 ATP6V0A2
7 osteopetrosis, autosomal recessive 4 34.8 TNFSF11 TCIRG1 CLCN7 ATP6V0A2
8 osteopetrosis, autosomal recessive 8 34.7 TCIRG1 SNX10 OSTM1 CLCN7
9 osteopetrosis, autosomal recessive 3 34.7 TCIRG1 SNX10 LRRK1 CLCN7 CA2 ATP6V0A2
10 autosomal recessive malignant osteopetrosis 34.4 TNFSF11 TCIRG1 SNX10 CLCN7
11 osteopetrosis, autosomal recessive 2 34.4 TNFSF11 TCIRG1 PLEKHM1 OSTM1 CTSK CLCN7
12 pycnodysostosis 32.4 TNFSF11 TCIRG1 PLEKHM1 MITF CTSK CLCN7
13 osteomyelitis 31.6 TNFSF11 CTSK ACP5
14 renal tubular acidosis 31.4 TCIRG1 CLCN7 CA2 ATP6V0A2
15 dysosteosclerosis 30.8 TNFRSF11A TCIRG1
16 craniometaphyseal dysplasia, autosomal dominant 30.8 TNFSF11 TCIRG1 SNX10 OSTM1 CLCN7
17 bone resorption disease 30.6 TNFSF11 TNFRSF11B TNFRSF11A LRP5 CTSK CSF1
18 microphthalmia 30.5 TNFSF11 MITF LRP5 CTSK ACP5
19 endosteal hyperostosis, autosomal dominant 30.5 TNFSF11 TNFRSF11B TCIRG1 PLEKHM1 OSTM1 LRP5
20 arthritis 30.2 TNFSF11 TNFRSF11A CTSK CSF1 ACP5
21 craniodiaphyseal dysplasia 30.2 TCIRG1 SNX10 PLEKHM1 LRP5 CLCN7
22 osteonecrosis 30.0 TNFSF11 TNFRSF11B LRP5 ACP5
23 van buchem disease 30.0 TNFSF11 TNFRSF11B LRP5
24 sclerosteosis 30.0 TNFSF11 TNFRSF11B LRP5 CTSK
25 bone disease 29.9 TNFSF11 TNFRSF11B TNFRSF11A SRC OSTM1 LRP5
26 periodontitis 29.7 TNFSF11 TNFRSF11B CTSK ACP5
27 mammary paget's disease 29.7 TNFSF11 TNFRSF11B TNFRSF11A CTSK ACP5
28 scoliosis 29.6 TNFSF11 TNFRSF11B TNFRSF11A CTSK ACP5
29 periodontitis, chronic 29.6 TNFSF11 TNFRSF11B
30 hyperparathyroidism 29.6 TNFSF11 TNFRSF11B ACP5
31 fibrous dysplasia 29.5 TNFSF11 TNFRSF11B TNFRSF11A
32 brittle bone disorder 29.4 TNFSF11 TNFRSF11B LRP5 CTSK ACP5
33 root resorption 29.4 TNFSF11 TNFRSF11B TNFRSF11A CTSK
34 paget's disease of bone 29.4 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A CSF1 ACP5
35 odontochondrodysplasia 29.1 TNFSF11 TNFRSF11B LRP5 CTSK CLCN7 ACP5
36 bone giant cell tumor 29.1 TNFSF11 TNFRSF11B TNFRSF11A CTSK CSF1 ACP5
37 rheumatoid arthritis 28.8 TNFSF11 TNFRSF11B TNFRSF11A CTSK CSF1 ACP5
38 osteoporosis 28.1 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A TCIRG1 SRC
39 osteopetrosis, autosomal dominant 3 12.7
40 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.6
41 ectodermal dysplasia and immunodeficiency 1 12.4
42 infantile osteopetrosis with neuroaxonal dysplasia 12.4
43 osteopetrosis and infantile neuroaxonal dystrophy 12.3
44 clcn7-related osteopetrosis 12.3
45 csf1r-related brain malformation and osteopetrosis 12.2
46 raine syndrome 11.7
47 trichodentoosseous syndrome 11.2
48 axial osteomalacia 10.5 TCIRG1 OSTM1 CLCN7
49 fibrogenesis imperfecta ossium 10.5 TCIRG1 OSTM1 CLCN7
50 yemenite deaf-blind hypopigmentation syndrome 10.5

Graphical network of the top 20 diseases related to Osteopetrosis:



Diseases related to Osteopetrosis

Symptoms & Phenotypes for Osteopetrosis

Human phenotypes related to Osteopetrosis:

58 31 (show all 50)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 macrocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000256
3 abnormal cortical bone morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0003103
4 hypophosphatemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002148
5 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
6 cranial nerve paralysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0006824
7 peripheral neuropathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0009830
8 reduced bone mineral density 58 31 hallmark (90%) Very frequent (99-80%) HP:0004349
9 osteomyelitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002754
10 growth delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001510
11 abnormal cranial nerve morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0001291
12 abnormality of vision 58 31 hallmark (90%) Very frequent (99-80%) HP:0000504
13 abnormality of the ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000772
14 recurrent fractures 58 31 hallmark (90%) Very frequent (99-80%) HP:0002757
15 hypocalcemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002901
16 petechiae 58 31 hallmark (90%) Very frequent (99-80%) HP:0000967
17 craniosynostosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001363
18 bone pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002653
19 lymphadenopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0002716
20 osteopetrosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011002
21 abnormal pelvis bone ossification 58 31 hallmark (90%) Very frequent (99-80%) HP:0009106
22 sclerotic vertebral endplates 58 31 hallmark (90%) Very frequent (99-80%) HP:0004576
23 abnormality of vertebral epiphysis morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0100734
24 sandwich appearance of vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0004618
25 immunodeficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002721
26 bruising susceptibility 58 31 frequent (33%) Frequent (79-30%) HP:0000978
27 persistence of primary teeth 58 31 frequent (33%) Frequent (79-30%) HP:0006335
28 leukocytosis 58 31 frequent (33%) Frequent (79-30%) HP:0001974
29 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
30 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
31 mandibular prognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000303
32 carious teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0000670
33 genu valgum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002857
34 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
35 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
36 abnormal pulmonary valve morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001641
37 osteoarthritis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002758
38 sleep apnea 58 31 occasional (7.5%) Occasional (29-5%) HP:0010535
39 bone marrow hypocellularity 58 31 occasional (7.5%) Occasional (29-5%) HP:0005528
40 renal tubular acidosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001947
41 abnormal chorioretinal morphology 31 occasional (7.5%) HP:0000532
42 abnormality of the dentition 58 Frequent (79-30%)
43 abnormality of the skull 58 Very frequent (99-80%)
44 abnormality of epiphysis morphology 58 Very frequent (99-80%)
45 abnormality of the thorax 58 Very frequent (99-80%)
46 increased bone mineral density 58 Very frequent (99-80%)
47 abnormality of the vertebral column 58 Very frequent (99-80%)
48 chorioretinal abnormality 58 Occasional (29-5%)
49 abnormal diaphysis morphology 58 Very frequent (99-80%)
50 abnormality of the vertebral endplates 58 Very frequent (99-80%)

GenomeRNAi Phenotypes related to Osteopetrosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.68 CSK TNFRSF11B
2 Decreased viability GR00221-A-2 9.68 TNFRSF11B
3 Decreased viability GR00221-A-3 9.68 CSK LRRK1
4 Decreased viability GR00240-S-1 9.68 TNFRSF11A
5 Decreased viability GR00249-S 9.68 ACP5 CA2 CLCN7 CSF1 TNFRSF11B
6 Decreased viability GR00301-A 9.68 SRC
7 Decreased viability GR00381-A-1 9.68 CTSK
8 Decreased viability GR00386-A-1 9.68 SNX10 TCIRG1 TNFSF11
9 Decreased viability GR00402-S-2 9.68 ATP6V0A2 CLCN7 CTSK MITF TCIRG1 TNFRSF11B

MGI Mouse Phenotypes related to Osteopetrosis:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.46 ATP6V0A2 CLCN7 CSF1 CSK CTSK IKBKG
2 growth/size/body region MP:0005378 10.45 CA2 CLCN7 CSF1 CSK CTSK IKBKG
3 immune system MP:0005387 10.45 ATP6V0A2 CA2 CLCN7 CSF1 CSK CTSK
4 craniofacial MP:0005382 10.42 CLCN7 CSF1 CSK CTSK LRP5 LRRK1
5 endocrine/exocrine gland MP:0005379 10.41 ATP6V0A2 CA2 CSF1 CSK CTSK IKBKG
6 cellular MP:0005384 10.37 CLCN7 CSF1 CSK CTSK IKBKG LRP5
7 behavior/neurological MP:0005386 10.35 CLCN7 CSF1 CSK IKBKG LRP5 LRRK1
8 homeostasis/metabolism MP:0005376 10.34 CA2 CLCN7 CSF1 CTSK IKBKG LRP5
9 mortality/aging MP:0010768 10.31 CA2 CLCN7 CSF1 CSK IKBKG LRP5
10 limbs/digits/tail MP:0005371 10.28 CLCN7 CSF1 CTSK LRP5 LRRK1 MITF
11 integument MP:0010771 10.16 ATP6V0A2 CLCN7 CSF1 IKBKG MITF OSTM1
12 normal MP:0002873 9.97 CLCN7 CSK IKBKG LRP5 MITF PLEKHM1
13 reproductive system MP:0005389 9.96 ATP6V0A2 CA2 CSF1 CTSK IKBKG MITF
14 pigmentation MP:0001186 9.87 CLCN7 IKBKG LRP5 MITF OSTM1 SRC
15 skeleton MP:0005390 9.86 CA2 CLCN7 CSF1 CTSK LRP5 LRRK1
16 respiratory system MP:0005388 9.76 CA2 CLCN7 CSF1 CSK CTSK SRC
17 vision/eye MP:0005391 9.36 CLCN7 CSF1 CSK LRP5 LRRK1 MITF

Drugs & Therapeutics for Osteopetrosis

Drugs for Osteopetrosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 64)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 2, Phase 3 58-05-9 6006 143
2
Methotrexate Approved Phase 2, Phase 3 59-05-2, 1959-05-2 126941
3
Clotrimazole Approved, Vet_approved Phase 2, Phase 3 23593-75-1 2812
4
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
5
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
6
Busulfan Approved, Investigational Phase 2, Phase 3 55-98-1 2478
7
Folic acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
8
Calcitriol Approved, Nutraceutical Phase 3 32222-06-3 5280453 134070
9 Vitamin B Complex Phase 2, Phase 3
10 Folic Acid Antagonists Phase 2, Phase 3
11 Antifungal Agents Phase 2, Phase 3
12 Folate Phase 2, Phase 3
13 Dermatologic Agents Phase 2, Phase 3
14 Thymoglobulin Phase 2, Phase 3
15 Calcineurin Inhibitors Phase 2, Phase 3
16 Vitamin B9 Phase 2, Phase 3
17 Micronutrients Phase 3
18 Anti-Infective Agents Phase 3
19 interferons Phase 3
20 Antiviral Agents Phase 3
21 Vasoconstrictor Agents Phase 3
22 Interferon-gamma Phase 3
23 Nutrients Phase 3
24 Trace Elements Phase 3
25 Antirheumatic Agents Phase 2, Phase 3
26 Antimetabolites Phase 2, Phase 3
27
Adenosine Approved, Investigational Phase 2 58-61-7 60961
28
Denosumab Approved Phase 2 615258-40-7
29
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
30
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
31
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
32
Tocopherol Approved, Investigational Phase 2 1406-66-2, 54-28-4 14986
33
alemtuzumab Approved, Investigational Phase 2 216503-57-0
34
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
35
Melphalan Approved Phase 2 148-82-3 460612 4053
36
Hydroxyurea Approved Phase 2 127-07-1 3657
37
Clofarabine Approved, Investigational Phase 2 123318-82-1 119182
38
Lenograstim Approved, Investigational Phase 2 135968-09-1
39
Sargramostim Approved, Investigational Phase 2 83869-56-1, 123774-72-1
40
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
41 Tocotrienol Investigational Phase 2 6829-55-6
42 Immunoglobulins Phase 1, Phase 2
43 Antibodies Phase 1, Phase 2
44 Antibodies, Monoclonal Phase 1, Phase 2
45 Pharmaceutical Solutions Phase 2
46 Vitamins Phase 2
47 Alkylating Agents Phase 2
48 Immunosuppressive Agents Phase 2
49 Immunologic Factors Phase 2
50 Antilymphocyte Serum Phase 2

Interventional clinical trials:

(show all 22)
# Name Status NCT ID Phase Drugs
1 Hematopoietic Stem Cell Transplantation for Malignant Infantile Osteopetrosis Unknown status NCT01087398 Phase 2, Phase 3 Busulfan, Cyclophosphamide, Thymoglobulin, Fludarabine (Conditioning regimen);Cyclosporin, Methotrexate (GVHD prophylaxis)
2 Risk-Adapted Allogeneic Stem Cell Transplantation For Mixed Donor Chimerism In Patients With Selected Non-Malignant Diseases Unknown status NCT01019876 Phase 2, Phase 3 Fludarabine;Cyclophosphamide;Cyclophosphamide 40;Cyclophosphamide 30
3 Phase III Randomized Study of Interferon Gamma in Children With Severe, Congenital Osteopetrosis Completed NCT00004402 Phase 3 calcitriol;interferon gamma
4 Allogeneic Hematopoietic Stem Cell Transplantation For Severe Osteopetrosis Completed NCT00775931 Phase 2, Phase 3 Campath-1H;Cyclophosphamide;Busulfan;Fludarabine monophosphate
5 Open-label Early Phase 2 Study With a Single Arm of Interferon Gamma-1b Treatment of Osteopetrosis Completed NCT02666768 Phase 2 Interferon gamma-1b
6 Phase 2a Study of Interferon Gamma-1b for the Treatment of Autosomal Dominant Type 2 Osteopetrosis Completed NCT02584608 Phase 2 ACTIMMUNE
7 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
8 Denosumab and Male Infertility: a Prospective Intervention Study Completed NCT02422108 Phase 2 Denosumab
9 Denosumab (A Monoclonal Antibody to Receptor Activator of Nuclear Factor-Kappa B Ligand (RANKL) in Crohn's Disease Completed NCT02321280 Phase 1, Phase 2 Denosumab
10 Safety and Efficacy of γIFN Treatment in Friedreich Ataxia Completed NCT03888664 Phase 2 gamma interferon
11 MT2013-31: Allogeneic Hematopoietic Cell Transplantation for Inherited Metabolic Disorders and Severe Osteopetrosis Following Conditioning With Busulfan (Therapeutic Drug Monitoring), Fludarabine +/- ATG Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
12 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤55 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
13 Phase II Extension Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR αβ+T Cells in Pediatric Patients Affected by Hematological Disorders Active, not recruiting NCT02065869 Phase 1, Phase 2 rimiducid
14 Phase II Extension Study of CaspaCIDe T Cells (BPX-501) From an HLA-partially Matched Family Donor After Negative Selection of TCR αβ+T Cells in Pediatric Patients Affected by Hematological Disorders Active, not recruiting NCT03301168 Phase 1, Phase 2 AP1903
15 Reduced Intensity Allogeneic Transplantation For Severe Osteopetrosis Incorporating A Second Cd34 Selected Graft Terminated NCT00638820 Phase 2 Campath, Busulfan, Clofarabine
16 A Phase II Study Using the CliniMACS® Device for CD34+ Cell Selection and T Cell Depletion for Graft-versus-Host Disease Prophylaxis in Alternative Donor Stem Cell Transplant Recipients Terminated NCT00968864 Phase 2
17 Effect of 12 Months Treatment With rhPTH on Calcium Balance, Bone Turnover, Bone Mineral Density, and Bone Micro-architecture in Patients With Fractures Associated With Low Bone Turnover and Sclerosing Bone Disorders Terminated NCT00145886 Phase 1 rhPTH
18 Post-Marketing Surveillance Study of Actimmune (Interferon Gamma-1b) in Patients With Severe Malignant Osteopetrosis Completed NCT00043329 Actimmune Registry
19 Clinical Assessment of Patients With High Bone Mass Due to Mutation in Low Density Lipoprotein l Receptor 5 Completed NCT01199094
20 Longitudinal Study of Neurodegenerative Disorders Recruiting NCT03333200
21 An Expanded Access Study of the Feasibility of Using the CliniMACS® Device for CD34+ Cell Selection and T Cell Depletion for Graft-versus-Host Disease Prophylaxis in Alternative Donor Stem Cell Transplant Recipients Available NCT01200017
22 Allogeneic Hematopoietic Stem Cell Transplantation for Children Affected With Malignant Osteopetrosis: A Pilot Study Terminated NCT00145587 Systemic chemotherapy and antibodies

Search NIH Clinical Center for Osteopetrosis

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Interferon gamma-1b

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Osteopetrosis cell therapies at LifeMap Discovery.

Genetic Tests for Osteopetrosis

Genetic tests related to Osteopetrosis:

# Genetic test Affiliating Genes
1 Osteopetrosis 29

Anatomical Context for Osteopetrosis

MalaCards organs/tissues related to Osteopetrosis:

40
Bone, Bone Marrow, Brain, Spleen, Liver, Kidney, T Cells

Publications for Osteopetrosis

Articles related to Osteopetrosis:

(show top 50) (show all 2426)
# Title Authors PMID Year
1
The resorptive apparatus of osteoclasts supports lysosomotropism and increases potency of basic versus non-basic inhibitors of cathepsin K. 54 61
20097319 2010
2
Molecular and clinical heterogeneity in CLCN7-dependent osteopetrosis: report of 20 novel mutations. 61 54
19953639 2010
3
Characteristics of ClC7 Cl- channels and their inhibition in mutant (G215R) associated with autosomal dominant osteopetrosis type II in native osteoclasts and hClcn7 gene-expressing cells. 61 54
19543743 2009
4
Carbonic anhydrase II deficiency a novel mutation. 54 61
19556665 2009
5
NF-kappaB functions in osteoclasts. 54 61
18992710 2009
6
CLCN7 polymorphisms and bone mineral density in healthy premenopausal white women and in white men. 54 61
18755304 2008
7
Rare gross deletion in T-cell immune regulator-1 gene in Iranian family with infantile malignant osteopetrosis. 61 54
18946580 2008
8
Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. 61 54
18606301 2008
9
Osteoclast-poor human osteopetrosis due to mutations in the gene encoding RANKL. 54 61
17632511 2007
10
The retinoblastoma protein is an essential mediator of osteogenesis that links the p204 protein to the Cbfa1 transcription factor thereby increasing its activity. 54 61
17439944 2007
11
Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation. 54 61
17164308 2007
12
Novel pycnodysostosis mouse model uncovers cathepsin K function as a potential regulator of osteoclast apoptosis and senescence. 54 61
17210673 2007
13
Carbonic anhydrase II in the developing and adult human brain. 54 61
16825953 2006
14
Interleukin-7 partially rescues B-lymphopoiesis in osteopetrotic oc/oc mice through the engagement of B220+ CD11b+ progenitors. 54 61
16797412 2006
15
Establishment and characterization of new osteoclast progenitor cell lines derived from osteopetrotic and wild type mice. 54 61
16503212 2006
16
Clinical and molecular findings in a family with the carbonic anhydrase II deficiency syndrome. 61 54
16382316 2006
17
Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II. 54 61
16368748 2006
18
Limited rescue of osteoclast-poor osteopetrosis after successful engraftment by cord blood from an unrelated donor. 61 54
16294279 2005
19
Polymorphisms of the CLCN7 gene are associated with BMD in women. 54 61
16234969 2005
20
Marble brain disease in two Saudi Arabian siblings. 54 61
16156988 2005
21
[Osteoprotegerin--a neutralizing receptor, protector of bones and a potential antiresorptive agent]. 61 54
16296579 2005
22
[Osteopetrosis with carbonic anhydrase II deficiency: report of 24 cases]. 54 61
16220698 2005
23
Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration. 54 61
15706348 2005
24
Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations. 61 54
15633192 2005
25
Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification. 54 61
15701991 2005
26
Immunohistochemical evaluation of microphthalmia-associated transcription factor expression in giant cell lesions. 54 61
15205688 2004
27
Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation. 54 61
15300855 2004
28
Severe malignant osteopetrosis caused by a GL gene mutation. 61 54
15177004 2004
29
Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II. 61 54
15111300 2004
30
Mitf and Tfe3: members of a b-HLH-ZIP transcription factor family essential for osteoclast development and function. 54 61
15050900 2004
31
Src kinase activity is essential for osteoclast function. 54 61
14739300 2004
32
Type II benign osteopetrosis (Albers-Schönberg disease) caused by a novel mutation in CLCN7 presenting with unusual clinical manifestations. 61 54
14564431 2004
33
Role for osteoprotegerin in rheumatoid inflammation. 61 54
14769514 2004
34
The a3 isoform of the 100-kDa V-ATPase subunit is highly but differentially expressed in large (>or=10 nuclei) and small (<or= nuclei) osteoclasts. 61 54
14504271 2003
35
Grey-lethal mutation induces severe malignant autosomal recessive osteopetrosis in mouse and human. 61 54
12627228 2003
36
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density. 54 61
12579474 2003
37
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. 54 61
12566520 2003
38
Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. 54 61
12552563 2003
39
Paralysis Episodes in Carbonic Anhydrase II Deficiency. 54 61
17657093 2003
40
Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation. 61 54
12687885 2003
41
Serum levels of TGF-beta and fibronectin in autosomal dominant osteopetrosis in relation to underlying mutations and well-described murine counterparts. 61 54
14696964 2003
42
The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes. 61 54
12351572 2002
43
Rescue of the osteopetrotic defect in op/op mice by osteoblast-specific targeting of soluble colony-stimulating factor-1. 61 54
11956177 2002
44
Novel mutations in the a3 subunit of vacuolar H(+)-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis. 61 54
11856654 2002
45
Linkage and association analyses of the osteoprotegerin gene locus with human osteoporosis. 54 61
12181640 2002
46
Macrophage colony-stimulating factor and receptor activator NF-kappaB ligand fail to rescue osteoclast-poor human malignant infantile osteopetrosis in vitro. 61 54
11792569 2002
47
Albers-Schönberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. 54 61
11741829 2001
48
[A benign form of osteopetrosis. Case report]. 61 54
11699297 2001
49
Human osteopetrosis and other sclerosing disorders: recent genetic developments. 54 61
11685426 2001
50
Linking osteopetrosis and pycnodysostosis: regulation of cathepsin K expression by the microphthalmia transcription factor family. 54 61
11331755 2001

Variations for Osteopetrosis

ClinVar genetic disease variations for Osteopetrosis:

6 (show top 50) (show all 184) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CLCN7 NM_001287.6(CLCN7):c.411G>A (p.Thr137=)SNV Conflicting interpretations of pathogenicity 727377 16:1510890-1510890 16:1460889-1460889
2 CLCN7 NM_001287.6(CLCN7):c.1986C>T (p.Pro662=)SNV Conflicting interpretations of pathogenicity 740731 16:1498383-1498383 16:1448382-1448382
3 CLCN7 NM_001287.6(CLCN7):c.774C>T (p.Ala258=)SNV Conflicting interpretations of pathogenicity 737258 16:1507303-1507303 16:1457302-1457302
4 CLCN7 NM_001287.6(CLCN7):c.212C>T (p.Pro71Leu)SNV Conflicting interpretations of pathogenicity 749129 16:1515269-1515269 16:1465268-1465268
5 CLCN7 NM_001287.6(CLCN7):c.141+8C>GSNV Conflicting interpretations of pathogenicity 736774 16:1524827-1524827 16:1474826-1474826
6 CLCN7 NM_001287.6(CLCN7):c.2415G>A (p.Thr805=)SNV Conflicting interpretations of pathogenicity 794074 16:1496635-1496635 16:1446634-1446634
7 CLCN7 NM_001287.6(CLCN7):c.1701C>T (p.Thr567=)SNV Conflicting interpretations of pathogenicity 718038 16:1499063-1499063 16:1449062-1449062
8 CLCN7 NM_001287.6(CLCN7):c.1884-10C>ASNV Conflicting interpretations of pathogenicity 718592 16:1498495-1498495 16:1448494-1448494
9 NDUFS8 , TCIRG1 NM_002496.4(NDUFS8):c.*40A>GSNV Conflicting interpretations of pathogenicity 305776 rs61329983 11:67804100-67804100 11:68036633-68036633
10 CLCN7 NM_001287.6(CLCN7):c.1354-7C>TSNV Conflicting interpretations of pathogenicity 317948 rs41286691 16:1501724-1501724 16:1451723-1451723
11 CLCN7 NM_001287.6(CLCN7):c.286-10C>TSNV Conflicting interpretations of pathogenicity 317965 rs376717256 16:1511481-1511481 16:1461480-1461480
12 CLCN7 NM_001287.6(CLCN7):c.95G>C (p.Gly32Ala)SNV Uncertain significance 317969 rs537057233 16:1524881-1524881 16:1474880-1474880
13 TNFSF11 NM_003701.4(TNFSF11):c.*333_*343deldeletion Uncertain significance 312244 rs886050255 13:43181387-43181397 13:42607251-42607261
14 CLCN7 NM_001287.6(CLCN7):c.*414C>TSNV Uncertain significance 317933 rs886051695 16:1496218-1496218 16:1446217-1446217
15 CLCN7 NM_001287.6(CLCN7):c.*396G>ASNV Uncertain significance 317934 rs149057560 16:1496236-1496236 16:1446235-1446235
16 CLCN7 NM_001287.6(CLCN7):c.1098+15C>TSNV Uncertain significance 317951 rs760916017 16:1505120-1505120 16:1455119-1455119
17 CLCN7 NM_001287.6(CLCN7):c.1098+11C>GSNV Uncertain significance 317952 rs202234120 16:1505124-1505124 16:1455123-1455123
18 CLCN7 NM_001287.6(CLCN7):c.1135A>G (p.Ile379Val)SNV Uncertain significance 317950 rs768971657 16:1504430-1504430 16:1454429-1454429
19 CLCN7 NM_001114331.2(CLCN7):c.-81C>TSNV Uncertain significance 317973 rs886051704 16:1525056-1525056 16:1475055-1475055
20 TCIRG1 NM_006019.3(TCIRG1):c.-128G>CSNV Uncertain significance 305778 rs536563994 11:67806463-67806463 11:68038996-68038996
21 CLCN7 NM_001287.6(CLCN7):c.*1497dupduplication Uncertain significance 317907 rs373942084 16:1495134-1495135 16:1445133-1445134
22 CLCN7 NM_001287.6(CLCN7):c.*797G>TSNV Uncertain significance 317925 rs886051692 16:1495835-1495835 16:1445834-1445834
23 CLCN7 NM_001287.6(CLCN7):c.*1293G>ASNV Uncertain significance 317915 rs529027139 16:1495339-1495339 16:1445338-1445338
24 CLCN7 NM_001287.6(CLCN7):c.*1248G>ASNV Uncertain significance 317916 rs371394735 16:1495384-1495384 16:1445383-1445383
25 CLCN7 NM_001287.6(CLCN7):c.*1189G>ASNV Uncertain significance 317917 rs886051691 16:1495443-1495443 16:1445442-1445442
26 CLCN7 NM_001287.6(CLCN7):c.729C>T (p.Ala243=)SNV Uncertain significance 317956 rs542484303 16:1507704-1507704 16:1457703-1457703
27 CLCN7 NM_001287.6(CLCN7):c.*379C>TSNV Uncertain significance 317936 rs753373584 16:1496253-1496253 16:1446252-1446252
28 CLCN7 NM_001287.6(CLCN7):c.*355C>TSNV Uncertain significance 317937 rs886051696 16:1496277-1496277 16:1446276-1446276
29 CLCN7 NM_001287.6(CLCN7):c.2331+14G>ASNV Uncertain significance 317942 rs886051698 16:1496993-1496993 16:1446992-1446992
30 CLCN7 NM_001287.6(CLCN7):c.2028G>C (p.Gln676His)SNV Uncertain significance 317946 rs886051700 16:1497701-1497701 16:1447700-1447700
31 CLCN7 NM_001287.6(CLCN7):c.*717C>ASNV Uncertain significance 317927 rs886051693 16:1495915-1495915 16:1445914-1445914
32 CLCN7 NM_001287.6(CLCN7):c.*543C>TSNV Uncertain significance 317931 rs542386664 16:1496089-1496089 16:1446088-1446088
33 CLCN7 NM_001287.6(CLCN7):c.1272G>A (p.Thr424=)SNV Uncertain significance 317949 rs145286036 16:1502837-1502837 16:1452836-1452836
34 CLCN7 NM_001287.6(CLCN7):c.*1421G>CSNV Uncertain significance 317910 rs886051689 16:1495211-1495211 16:1445210-1445210
35 CLCN7 NM_001287.6(CLCN7):c.*1297T>CSNV Uncertain significance 317914 rs556488187 16:1495335-1495335 16:1445334-1445334
36 CLCN7 NM_001287.6(CLCN7):c.*1143_*1144dupduplication Uncertain significance 317921 rs146690487 16:1495487-1495488 16:1445486-1445487
37 CLCN7 NM_001287.6(CLCN7):c.*388C>TSNV Uncertain significance 317935 rs745852264 16:1496244-1496244 16:1446243-1446243
38 CLCN7 NM_001287.6(CLCN7):c.*241G>ASNV Uncertain significance 317938 rs559965660 16:1496391-1496391 16:1446390-1446390
39 CLCN7 NM_001287.6(CLCN7):c.*228C>TSNV Uncertain significance 317939 rs143364973 16:1496404-1496404 16:1446403-1446403
40 CLCN7 NM_001287.6(CLCN7):c.*57C>TSNV Uncertain significance 317941 rs886051697 16:1496575-1496575 16:1446574-1446574
41 CLCN7 NM_001287.6(CLCN7):c.2214C>T (p.Ser738=)SNV Uncertain significance 317943 rs531105528 16:1497429-1497429 16:1447428-1447428
42 CLCN7 NM_001287.6(CLCN7):c.564C>T (p.Leu188=)SNV Uncertain significance 317959 rs781074115 16:1510449-1510449 16:1460448-1460448
43 CLCN7 NM_001287.6(CLCN7):c.352-11G>ASNV Uncertain significance 317960 rs764398895 16:1510960-1510960 16:1460959-1460959
44 CLCN7 NM_001287.6(CLCN7):c.351+14C>TSNV Uncertain significance 317961 rs886051701 16:1511392-1511392 16:1461391-1461391
45 CLCN7 NM_001287.6(CLCN7):c.351+12G>ASNV Uncertain significance 317962 rs371035809 16:1511394-1511394 16:1461393-1461393
46 CLCN7 NM_001287.6(CLCN7):c.90C>T (p.Pro30=)SNV Uncertain significance 317970 rs550851648 16:1524886-1524886 16:1474885-1474885
47 CLCN7 NM_001287.6(CLCN7):c.*216C>TSNV Uncertain significance 884261 16:1496416-1496416 16:1446415-1446415
48 CLCN7 NM_001287.6(CLCN7):c.*135G>ASNV Uncertain significance 884262 16:1496497-1496497 16:1446496-1446496
49 CLCN7 NM_001287.6(CLCN7):c.*132C>TSNV Uncertain significance 886289 16:1496500-1496500 16:1446499-1446499
50 TNFRSF11A NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu)SNV Uncertain significance 287370 rs148185533 18:60029014-60029014 18:62361781-62361781

Expression for Osteopetrosis

Search GEO for disease gene expression data for Osteopetrosis.

Pathways for Osteopetrosis

Pathways related to Osteopetrosis according to KEGG:

36
# Name Kegg Source Accession
1 Osteoclast differentiation hsa04380
2 Rheumatoid arthritis hsa05323

Pathways related to Osteopetrosis according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A TCIRG1 SRC
2
Show member pathways
13.19 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A SRC IKBKG
3
Show member pathways
12.92 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A SRC IKBKG
4 12.42 TRAF6 TNFSF11 TNFRSF11A IKBKG
5
Show member pathways
12.41 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A SRC IKBKG
6
Show member pathways
12.39 TCIRG1 OSTM1 CLCN7 ATP6V0A2
7
Show member pathways
12.34 TNFSF11 TNFRSF11A SRC IKBKG
8
Show member pathways
12.29 TCIRG1 SRC IKBKG CSK CA2 ATP6V0A2
9 12.08 TRAF6 TCIRG1 SRC ATP6V0A2
10
Show member pathways
12.01 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A SRC MITF
11 11.9 TCIRG1 CTSK ATP6V0A2 ACP5
12
Show member pathways
11.8 TRAF6 IKBKG CSK
13 11.77 TRAF6 TNFSF11 TNFRSF11A IKBKG
14 11.67 TNFSF11 TNFRSF11A TCIRG1 CTSK CSF1 ATP6V0A2
15
Show member pathways
11.63 TNFSF11 TNFRSF11B TNFRSF11A
16
Show member pathways
11.6 TRAF6 TNFSF11 TNFRSF11A IKBKG
17 11.39 SRC CSK CSF1
18 11.38 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A MITF IKBKG
19 11.28 TNFSF11 TNFRSF11B TNFRSF11A CA2
20 10.86 TNFSF11 TNFRSF11B TNFRSF11A CTSK ACP5
21 10.72 TNFSF11 TNFRSF11B
22 10.64 TRAF6 IKBKG

GO Terms for Osteopetrosis

Cellular components related to Osteopetrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.18 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A TCIRG1 SRC
2 lysosomal membrane GO:0005765 9.55 TCIRG1 PLEKHM1 OSTM1 CLCN7 ATP6V0A2
3 vacuolar proton-transporting V-type ATPase complex GO:0016471 9.37 TCIRG1 ATP6V0A2
4 endosome membrane GO:0010008 9.35 TRAF6 TCIRG1 SNX10 PLEKHM1 ATP6V0A2
5 proton-transporting V-type ATPase, V0 domain GO:0033179 9.32 TCIRG1 ATP6V0A2
6 vacuolar proton-transporting V-type ATPase, V0 domain GO:0000220 9.26 TCIRG1 ATP6V0A2
7 lysosome GO:0005764 9.17 TCIRG1 SRC PLEKHM1 OSTM1 CTSK CLCN7

Biological processes related to Osteopetrosis according to GeneCards Suite gene sharing:

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 immune response GO:0006955 10 TRAF6 TNFSF11 IKBKG CTSK ATP6V0A2
2 ion transmembrane transport GO:0034220 9.93 TCIRG1 OSTM1 CLCN7 ATP6V0A2
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.88 TRAF6 TNFSF11 TNFRSF11A IKBKG
4 tumor necrosis factor-mediated signaling pathway GO:0033209 9.85 TRAF6 TNFSF11 TNFRSF11B TNFRSF11A
5 positive regulation of DNA-binding transcription factor activity GO:0051091 9.84 TRAF6 TNFSF11 TNFRSF11A LRP5
6 ossification GO:0001503 9.83 TRAF6 TNFSF11 TNFRSF11A TCIRG1 ACP5
7 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.81 TRAF6 SRC IKBKG
8 positive regulation of MAP kinase activity GO:0043406 9.77 TNFSF11 SRC CSK
9 response to interleukin-1 GO:0070555 9.73 TRAF6 TNFRSF11A SRC
10 bone remodeling GO:0046849 9.67 TRAF6 MITF LRP5
11 branching involved in mammary gland duct morphogenesis GO:0060444 9.65 SRC LRP5 CSF1
12 mammary gland alveolus development GO:0060749 9.64 TNFSF11 TNFRSF11A
13 negative regulation of bone resorption GO:0045779 9.63 TNFRSF11B CSK
14 positive regulation of intracellular signal transduction GO:1902533 9.63 TNFSF11 SRC LRRK1
15 regulation of osteoclast differentiation GO:0045670 9.62 TNFSF11 MITF
16 vacuolar acidification GO:0007035 9.62 TCIRG1 ATP6V0A2
17 cellular response to fluid shear stress GO:0071498 9.61 SRC CA2
18 response to pH GO:0009268 9.61 CLCN7 CA2
19 establishment of vesicle localization GO:0051650 9.58 TCIRG1 IKBKG
20 tooth eruption GO:0044691 9.58 TNFSF11 TCIRG1 SNX10
21 TNFSF11-mediated signaling pathway GO:0071847 9.57 TNFSF11 TNFRSF11A
22 positive regulation of osteoclast differentiation GO:0045672 9.56 TRAF6 TNFSF11 CSF1 CA2
23 bone resorption GO:0045453 9.56 TRAF6 TNFSF11 TCIRG1 SRC SNX10 LRRK1
24 osteoclast development GO:0036035 9.54 TNFSF11 SRC LRRK1
25 positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling GO:0071848 9.52 TNFSF11 TNFRSF11A
26 positive regulation of fever generation by positive regulation of prostaglandin secretion GO:0071812 9.51 TNFSF11 TNFRSF11A
27 osteoclast proliferation GO:0002158 9.5 TNFSF11 TCIRG1 CSF1
28 positive regulation of bone resorption GO:0045780 9.46 TNFSF11 TNFRSF11A PLEKHM1 CA2
29 osteoclast differentiation GO:0030316 9.23 TRAF6 TNFSF11 TNFRSF11A TCIRG1 SNX10 OSTM1

Molecular functions related to Osteopetrosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATPase binding GO:0051117 8.92 TCIRG1 SRC SNX10 ATP6V0A2

Sources for Osteopetrosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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